(c) Size distribution of circulatory fetal DNA as determined by a real-time PCR assay for the SRY gene
. These values are indicative of the percentage of fetal DNA with regard to the total amount of fetal DNA in each fraction examined.
For quantitative analysis of the size spectrum of fetal DNA in maternal plasma, we designed a panel of six PCR assays with different-sized amplicons targeting the SRY gene
. The PCR systems consisted of six different reverse primers, one common forward primer, and one common TagMan minor-groove-binding probe.
Changes in the concentration of the amplified SRY gene
sequence before and after amniocentesis were compared by the Wilcoxon signed-rank test.
All sera from pregnant women carrying a female fetus were negative for the SRY gene
(n = 62), whereas all sera from pregnant women carrying a male fetus were positive (n = 46).
There was a significant correlation between the concentration of the SRY gene
as determined by real-time PCR and the Y cell% as determined by fluorescence in situ hybridization (Pearson product moment correlation, r = 0.878; P = 7.74 x [10.sup.-8]).
Amplification signals of the SRY gene
were detectable in all serum samples.
We nonetheless determined fetal gender from SRY gene
The major reason for 46 XX male condition is the un-equal crossing over or interchange of a fragment of the short arm of the Y chromosome containing SRY gene
with the X chromosome during paternal meiosis (4-8).
Primary genetic analysis revealed that the patient's karyotype was 46, XY and no pathogenic variant was identified in the SRY gene
. The patient was primarily diagnosed as a case of male pseudohermaphroditism.
High conservation of SRY gene
in buffalo compared to other bovids.
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene
. J Pediatr Endocrinol Metab 2003;16:575-80.
The differential diagnosis of 46, XX DSD includes CAH (e.g., 21-hydroxylase deficiency and 11-[beta]-hydroxylase deficiency), gestational hyperandrogenism, testicular DSD, ovotesticular DSD, and translocation of the SRY gene
. CAH is the most common diagnosis in virilized XX infants.